Huntington’s disease is a very detrimental disease causing many changes to the body, including slowing down the nervous system until the body is unable to function. This disease affects 1 in every 10,000 people (Geyer), and takes away sufferers’ lives at around 65 years old (Revilla). This inherited disease has unbearable effects on the body and can change an ordinary life in only a few quick years after the first symptoms. There is no cure or treatment for this disease which makes it very hard to accept that such a condition has been placed in your life, but there are predictive tests that you can choose to have to address whether you may or may not have Huntington’s disease, this is a choice that many question but it is based on whether …show more content…
It is a disease that progressively breaks down the nerves in the brain. The genetic mutation that underlies the disease is in chromosome 4. The gene codes for the huntingtin protein, which makes up about 6% of the DNA in cells (Genetic Home Reference). This mutation deals with the trinucleotide repeat of the cytosine-adenine-guanine (CAG) sequence. This sequence repeat can repeat up to 40 times to be considered normal, but after this sequence repeats more than 41 times then it is considered Huntington's disease. Huntington’s protein can form inclusions seen in both the cytoplasm and the nucleus (Suchowersky). These inclusions are correlated with neuronal cell death, which occurs within the nerves. Interestingly, Huntington protein seems to be very important for early development (Suchowersky), but in high concentrations appears to become toxic especially to nerve cells. Overall, Huntington’s disease has a very intense effect on the body and behavior …show more content…
Therefore, there is only one option to determine if you have this disease. This option is called a predictive testing, which is where the doctor either takes a swab of your saliva or a sample of your blood and tests a certain genetic sequence. This test is completely optional, due to many of the factors that go into deciding whether or not you think you want to get this testing done. This test is sent off for analysis and you wait to get information back from your doctor. During this time you are given a counselor, to help you get through this time and to help you figure out the steps for your future. There are positive and negative factors for this getting this test performed, and could be a very hard decision for the possible inheritor. First, you have to think about your future and the plans for your life, is it better to live in fear of what might happen? Or to be given an exact life sentence? With knowing this information, you may either plan your life out early or just let this disease takes its course in your life and not be scared of what will potentially happen. Also another factor into deciding whether or not you want to be tested is taking into account about your chances of reproducing. If you get the test done and it comes
Huntington’s Disease is a brain disorder affecting movement, cognition, and emotions (Schoenstadt). It is a genetic disorder generally affecting people in their middle 30s and 40s (Sheth). Worldwide, Huntington’s disease (affects between 3-7 per 100,000 people of European ancestry (Schoenstadt). In the United States alone, 1 in every 30,000 people has Huntington’s disease (Genetic Learning Center). Huntington’s Disease is a multi-faceted disease, with a complex inheritance pattern and a wide range of symptoms. There is also much research being done in the field of Huntington’s disease, because as of 2012, this disease is untreatable. THESIS.
Huntington's disease is an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder.
One disease that can be tested for using these methods is Huntington’s disease, which causes involuntary spasms and contractions and a decline of coordination and cognitive ability (Online Mendelian Inheritance in Man [OMIM], 2014). These symptoms occur as a result of a trinucleotide repeat in the huntingtin gene on chromosome 4p16.3, also known as the HTT gene. The disease is autosomal dominant, with the completeness of its
The genetic disorder is caused by a mutation in the DNA segment CAG found in chromosome 4 which results nerve cell death. Phenotypic characteristics include gradual motor dysfunction, psychological issues that correlate to degeneration of metal health, and cognitive degeneration. Studies on transgenic mice have allowed a better understanding of the proteins that relate to Huntington’s
Huntington's Disease is a genetic autosomal disorder which effects the brain. It affects about 1 in 20,000 individuals. The symptoms of the disease do not start to occur until after or around 40 years of age. With the onset of the disease the patient starts to gradually deteriorate intellectually, this deterioration also causes involuntary movements. Scientists have only recently found the section of the gene which causes Huntington's disease, and this is allowed them to devise pre-symptomatic tests. However, a cure for the disease is yet to be found.
Huntington's Disease (HD) is an autosomal dominant, progressive, neurodegenerative disorder (Walker, 2007 and Harmon, 2007). The gene that causes the disease is located on the fourth chromosome and causes an abnormal number of repeats in the patient's genetic code (Harmon, 2007). Huntington's Disease can have devastating effects on patients' quality of life. The first symptoms of HD generally start between the ages of 30 and 45 and patients are typically asymptomatic prior to this time (Terrenoire, 1992 and Walker, 2007). However, the disease progresses with subtle changes in motor control, personality, and cognition. Patients eventually develop distinct
Huntington's Disease is a devastating and progressive neurological disorder that resu lts primarily from degeneration of nerve cells deep in the center of the brain. The condition was first described by George Huntington, a physician in New York, in 1872. Even then, the physician recognized the all-encompassing factors of the disorder when describing it as, "coming on gradually but surely, increasing by degrees, and often occupying years in its development until the hapless sufferer is but a quivering wreck of his former self".
Huntington’s disease is an autosomal, dominant inherited disorder caused by a polyglutamine expansion at the amino-terminal on the huntingtin protein. It causes a progressive degeneration of spiny nerve cells in the striatum and cortex of the brain, impairing a person’s functional and cognitive abilities. Polyglutamine repeats of 36 are found to be non-threating but sequences containing an additional two or three repeats are associated with Huntington’s disease.
Huntington’s disease is caused by a mutation in the gene for a protein called Huntingtin. The genetic mutation results in the building blocks of DNA (cytosine, adenine, and guanine) to be replicated many more times than in an average individual. As a result, Huntington’s disease breaks down brain cells, or neurons, specifically located in the primary motor cortex regions of the brain, but can effect other brain areas
Huntington's disease is an autosomal dominant disorder, which is found on the # 4 chromosome. George Huntington discovered it in 1872. It mainly has an effect on the nervous system. There are around 210,000 bases between D4S180 and D4S127. The disease itself is found in 2% of people in their childhood, and in 5% of the people they were older then 60. (Miller p 16) In the majority of the affected people the disease is detected between the ages of 35-45. In males the disease begins around the time of their childhood. However, in females it begins later in life. This severe symptom has a tendency for the condition to worsen as it is passed on from generation to generation. Huntington’s disease is paternally
Huntington’s disease is a neurological (nervous system) condition caused by the inheritance of an altered gene. A neurological disorder is a disease that can affect the central and peripheral nervous systems. Huntington’s disease is an incurable genetic brain disorder. The disease is an autosomal dominant disease, meaning a child only needs to inherit the gene from one parent to develop Huntington’s. Nerve cells become damaged when someone holds the HTT gene that produces a protein called huntingtin, as too much of this protein damages cells, and causes various parts of the brain to gradually deteriorate. Huntington’s disease causes changes in the central area of the brain, the basal ganglia, which can affect movement, emotions, and mental
Huntington’s Disease is a genetic disease that causes gradual brain deterioration in a wide range of ages. Early onset conditions can occur in an individual younger than twenty and some late onset conditions can develop as late as 80. Early symptoms are subtle, such as emotional changes, as time goes on symptoms worsen to memory loss and loss of cognitive functions, then there is complete loss of the body. In most cases, death occurs for related complications such as pneumonia, infections, falls, and inability to swallow within ten to twenty years of symptom appearance. If someone has Huntington’s Disease, there isn’t anything to prevent brain deterioration. Even If someone without symptoms is tested and predicted HD(Huntington's Disease),
The HTT gene plays an important role in the brain’s nerve cells and involves a DNA segment known as CAG trinucleotide repeat. The CAG repeat is made up of a series of three DNA building blocks that appear multiple times in a row. A normal repeat of CAG is only 10-35 times within the gene, however, affected individuals have a 36-120+ repeat. An increase in the CAG size leads to the production of abnormally long versions the the Huntington Protein. These longer versions are then cut into smaller and toxic fragments that bind together and accumulate in neurons; this disrupts the normal functions of these cells. The dysfunctional, and eventual death, of neurons in specific areas of the brain control the signs and symptoms of Huntington Disease
Huntington 's disease is an inherited neurodegenerative disease that is caused by a mutation on the HTT gene. It typically effects persons in their third to fifth decade of life and can be passed onto their children. Neurons in the brain waste away or degenerate in different areas causing the characterizing symptoms, such as dance-like movements and mental decline. Diagnosis and prognosis can be devastating to both individual and family. However, there are genetic tests that can help to predict the probability of developing symptoms of the disease. There is no cure for this debilitating disease; only symptom control and maximization of comfort can be prescribed until future research finds a cure. This paper will review origins and symptoms, in addition to treatments and future treatments.
Huntington's Disease Society of America state, "Huntington's disease is a genetic disorder that causes the breakdown of nerve cells in the brain. It ruins a person's physical and mental abilities during their prime working years." Huntington's is known as the a family disease because every child of a parent